List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.
View information by inheritance mode
| S.No. | Genetic Disorders (Gentigs update) Modes of inheritance |
Category | Gene symbol | Links | Indian context |
| 311 | Sotos syndrome (Mar 09, 2023) Autosomal dominant |
Neurodevelopmental disorders |
NSD1 nuclear receptor binding SET domain protein 1 |
PubMed | Reports |
| 312 | Spinocerebellar ataxia 12 (Nov 02, 2023) Autosomal dominant |
Neurodegenerative disorders |
PPP2R2B protein phosphatase 2 regulatory subunit Bbeta |
PubMed | Reports |
| 313 | Spinocerebellar ataxia 46 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
PLD3 phospholipase D family member 3 |
PubMed | Reports |
| 314 | Spinocerebellar ataxia type 1 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
ATXN1 ataxin 1 |
PubMed | Reports |
| 315 | Spinocerebellar ataxia type 10 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
ATXN10 ataxin 10 |
PubMed | Reports |
| 316 | Spinocerebellar ataxia type 14 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
PRKCG protein kinase C gamma |
PubMed | Reports |
| 317 | Spinocerebellar ataxia type 16 (Apr 17, 2024) Autosomal recessive |
Neurodegenerative disorders |
ITPR1 inositol 1,4,5-trisphosphate receptor type 1 |
PubMed | Reports |
| 318 | Spinocerebellar ataxia type 17 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
TBP TATA-box binding protein |
PubMed | Reports |
| 319 | Spinocerebellar ataxia type 18 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
IFRD1 interferon related developmental regulator 1 |
PubMed | Reports |
| 320 | Spinocerebellar ataxia type 2 (Apr 17, 2024) Autosomal dominant |
Neurodegenerative disorders |
ATXN2 ataxin 2 |
PubMed | Reports |